Linked Data
ClinVar Variation Id:
422471
ClinVar RCV Id:
RCV000484476
dbSNP Id:
rs1064795801
gnomAD v3:
8-139910301-C-T
gnomAD v4:
8-139910301-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.139910301C>T , CM000670.2:g.139910301C>T | GRCh38 |
| NC_000008.10:g.140922545C>T , CM000670.1:g.140922545C>T | GRCh37 |
| NC_000008.9:g.140991727C>T | NCBI36 |
| NG_016478.2:g.553279G>A | |
| NG_016478.3:g.553279G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000438773.4:c.2811-1G>A MANE Select | ENSP00000405060.3:n.2811-1G>A | |
| ENST00000648948.2:c.2811-1G>A | ENSP00000498020.1:n.2811-1G>A | |
| ENST00000389328.8:c.3105-1G>A | ENSP00000373979.4:n.3105-1G>A | |
| ENST00000438773.2:c.2811-1G>A | ENSP00000405060.2:n.2811-1G>A | |
| ENST00000520857.5:c.2341-1G>A | ||
| ENST00000521667.5:n.1216-1G>A | ||
| ENST00000523777.5:n.420-1G>A | ||
| ENST00000524162.5:n.237-1G>A | ||
| NM_001160372.2:c.2811-1G>A | NP_001153844.1:n.2811-1G>A | |
| NM_031466.6:c.3105-1G>A | NP_113654.4:n.3105-1G>A | |
| XM_005251077.3:c.2811-1G>A | XP_005251134.1:n.2811-1G>A | |
| XM_011517326.1:c.3078-1G>A | XP_011515628.1:n.3078-1G>A | |
| XM_011517327.1:c.3105-1G>A | XP_011515629.1:n.3105-1G>A | |
| XM_011517328.1:c.3105-1G>A | XP_011515630.1:n.3105-1G>A | |
| XM_011517329.1:c.2199-1G>A | XP_011515631.1:n.2199-1G>A | |
| XM_011517330.1:c.1260-1G>A | XP_011515632.1:n.1260-1G>A | |
| XR_928355.1:n.3175-1G>A | ||
| NM_001160372.3:c.2811-1G>A | NP_001153844.1:n.2811-1G>A | |
| NM_001321646.1:c.2784-1G>A | NP_001308575.1:n.2784-1G>A | |
| NM_031466.7:c.3105-1G>A | NP_113654.4:n.3105-1G>A | |
| XM_011517326.2:c.3078-1G>A | XP_011515628.1:n.3078-1G>A | |
| XM_011517328.2:c.3105-1G>A | XP_011515630.1:n.3105-1G>A | |
| XM_011517330.2:c.1260-1G>A | XP_011515632.1:n.1260-1G>A | |
| XM_017013894.2:c.1431-1G>A | XP_016869383.1:n.1431-1G>A | |
| XR_928355.2:n.3175-1G>A | ||
| NM_001160372.4:c.2811-1G>A MANE Select | NP_001153844.1:n.2811-1G>A | |
| NM_001321646.2:c.2784-1G>A | NP_001308575.1:n.2784-1G>A | |
| NM_001374682.1:c.2832-1G>A | NP_001361611.1:n.2832-1G>A | |
| NM_001374683.1:c.2700-1G>A | NP_001361612.1:n.2700-1G>A | |
| NM_001374684.1:c.2667-1G>A | NP_001361613.1:n.2667-1G>A | |
| NM_031466.8:c.2811-1G>A | NP_113654.5:n.2811-1G>A | |
| NR_164662.1:n.2900-1G>A |